Incidental Mutation 'IGL01603:Akap8l'
ID |
92199 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Akap8l
|
Ensembl Gene |
ENSMUSG00000002625 |
Gene Name |
A kinase anchor protein 8-like |
Synonyms |
Nakap95 |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.641)
|
Stock # |
IGL01603
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
32540398-32569581 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 32564327 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 20
(D20V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000051389
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050214]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000050214
AA Change: D20V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000051389 Gene: ENSMUSG00000002625 AA Change: D20V
Domain | Start | End | E-Value | Type |
low complexity region
|
37 |
62 |
N/A |
INTRINSIC |
low complexity region
|
78 |
93 |
N/A |
INTRINSIC |
low complexity region
|
112 |
120 |
N/A |
INTRINSIC |
low complexity region
|
236 |
257 |
N/A |
INTRINSIC |
low complexity region
|
296 |
306 |
N/A |
INTRINSIC |
low complexity region
|
307 |
324 |
N/A |
INTRINSIC |
low complexity region
|
330 |
350 |
N/A |
INTRINSIC |
coiled coil region
|
356 |
383 |
N/A |
INTRINSIC |
ZnF_C2H2
|
389 |
413 |
1.05e1 |
SMART |
SCOP:d1jvr__
|
538 |
613 |
7e-5 |
SMART |
low complexity region
|
628 |
640 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akr1c12 |
A |
G |
13: 4,322,926 (GRCm39) |
|
probably null |
Het |
Baiap2l1 |
C |
T |
5: 144,217,625 (GRCm39) |
|
probably benign |
Het |
Baz2a |
T |
C |
10: 127,947,037 (GRCm39) |
F184L |
probably damaging |
Het |
Cadps |
T |
C |
14: 12,454,154 (GRCm38) |
|
probably benign |
Het |
Cbr4 |
A |
T |
8: 61,956,245 (GRCm39) |
*237Y |
probably null |
Het |
Cln3 |
T |
G |
7: 126,174,526 (GRCm39) |
N275T |
probably benign |
Het |
Csf1r |
A |
G |
18: 61,262,373 (GRCm39) |
E823G |
probably damaging |
Het |
Ctr9 |
C |
A |
7: 110,648,538 (GRCm39) |
A726D |
probably damaging |
Het |
Def6 |
C |
T |
17: 28,438,714 (GRCm39) |
|
probably benign |
Het |
Dock4 |
T |
A |
12: 40,743,030 (GRCm39) |
I395N |
probably damaging |
Het |
Eln |
T |
C |
5: 134,747,894 (GRCm39) |
|
probably benign |
Het |
Fasn |
A |
T |
11: 120,706,891 (GRCm39) |
H920Q |
probably damaging |
Het |
Glb1l3 |
A |
G |
9: 26,770,832 (GRCm39) |
I78T |
probably damaging |
Het |
Gm7275 |
A |
T |
16: 47,893,942 (GRCm39) |
|
noncoding transcript |
Het |
Grm5 |
A |
C |
7: 87,252,386 (GRCm39) |
Y212S |
probably damaging |
Het |
Gtf2ird2 |
T |
C |
5: 134,231,129 (GRCm39) |
|
probably benign |
Het |
Gucy1b1 |
A |
G |
3: 81,942,175 (GRCm39) |
V528A |
probably damaging |
Het |
Hspg2 |
G |
A |
4: 137,280,114 (GRCm39) |
A3168T |
probably damaging |
Het |
Kcnj6 |
A |
G |
16: 94,634,058 (GRCm39) |
S18P |
probably benign |
Het |
Kcnq5 |
T |
A |
1: 21,575,564 (GRCm39) |
K294I |
possibly damaging |
Het |
Lama4 |
G |
A |
10: 38,941,642 (GRCm39) |
G693E |
possibly damaging |
Het |
Ldb1 |
A |
T |
19: 46,024,014 (GRCm39) |
I124K |
probably damaging |
Het |
Lrrfip1 |
C |
T |
1: 91,043,635 (GRCm39) |
T680I |
probably benign |
Het |
Lypd10 |
T |
A |
7: 24,411,954 (GRCm39) |
W45R |
probably damaging |
Het |
Map3k19 |
T |
A |
1: 127,758,010 (GRCm39) |
D186V |
possibly damaging |
Het |
Mrgprx2 |
T |
C |
7: 48,132,374 (GRCm39) |
Y148C |
probably damaging |
Het |
Muc4 |
G |
A |
16: 32,569,473 (GRCm39) |
A178T |
probably benign |
Het |
Mylip |
A |
C |
13: 45,543,479 (GRCm39) |
E16A |
probably benign |
Het |
Nek9 |
A |
G |
12: 85,352,379 (GRCm39) |
F828S |
probably damaging |
Het |
Obscn |
A |
G |
11: 58,928,631 (GRCm39) |
F6012L |
probably damaging |
Het |
Or14a257 |
A |
G |
7: 86,138,139 (GRCm39) |
S207P |
possibly damaging |
Het |
Or2o1 |
A |
C |
11: 49,051,438 (GRCm39) |
D199A |
probably damaging |
Het |
Or5p54 |
A |
G |
7: 107,554,580 (GRCm39) |
Y244C |
possibly damaging |
Het |
Pcid2 |
T |
A |
8: 13,129,936 (GRCm39) |
K273N |
possibly damaging |
Het |
Plekhm3 |
C |
T |
1: 64,960,991 (GRCm39) |
D422N |
probably damaging |
Het |
Prr12 |
T |
C |
7: 44,692,909 (GRCm39) |
H1541R |
probably damaging |
Het |
Psg26 |
A |
C |
7: 18,209,028 (GRCm39) |
V460G |
probably damaging |
Het |
Rbmxl1 |
G |
A |
8: 79,232,459 (GRCm39) |
R295* |
probably null |
Het |
Sbf1 |
A |
T |
15: 89,187,481 (GRCm39) |
V690E |
probably damaging |
Het |
Serpinb2 |
T |
A |
1: 107,449,910 (GRCm39) |
S108T |
probably benign |
Het |
Sin3b |
T |
C |
8: 73,476,692 (GRCm39) |
Y709H |
probably damaging |
Het |
Slc17a5 |
A |
G |
9: 78,481,989 (GRCm39) |
W160R |
probably damaging |
Het |
Spef2 |
T |
A |
15: 9,704,466 (GRCm39) |
D449V |
probably damaging |
Het |
Tas2r108 |
C |
A |
6: 40,470,720 (GRCm39) |
N65K |
possibly damaging |
Het |
Tex15 |
T |
A |
8: 34,063,575 (GRCm39) |
F1002I |
possibly damaging |
Het |
Trpm5 |
G |
A |
7: 142,629,338 (GRCm39) |
S942L |
probably benign |
Het |
Tspan5 |
T |
C |
3: 138,596,517 (GRCm39) |
S52P |
probably damaging |
Het |
Uqcrfs1 |
T |
C |
13: 30,725,181 (GRCm39) |
T120A |
probably benign |
Het |
Usp6nl |
T |
C |
2: 6,428,246 (GRCm39) |
F193L |
probably damaging |
Het |
Vmn2r26 |
T |
A |
6: 124,030,833 (GRCm39) |
C523S |
probably damaging |
Het |
Wfdc2 |
C |
T |
2: 164,405,979 (GRCm39) |
P92S |
probably benign |
Het |
Zbtb18 |
A |
T |
1: 177,275,549 (GRCm39) |
H303L |
probably benign |
Het |
Zfp174 |
A |
T |
16: 3,672,153 (GRCm39) |
H234L |
probably benign |
Het |
Zmynd12 |
T |
C |
4: 119,299,117 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Akap8l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00590:Akap8l
|
APN |
17 |
32,552,071 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL02028:Akap8l
|
APN |
17 |
32,557,495 (GRCm39) |
splice site |
probably null |
|
IGL02033:Akap8l
|
APN |
17 |
32,557,246 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02301:Akap8l
|
APN |
17 |
32,551,900 (GRCm39) |
splice site |
probably benign |
|
R1136:Akap8l
|
UTSW |
17 |
32,551,457 (GRCm39) |
missense |
probably damaging |
1.00 |
R1137:Akap8l
|
UTSW |
17 |
32,551,457 (GRCm39) |
missense |
probably damaging |
1.00 |
R1192:Akap8l
|
UTSW |
17 |
32,551,457 (GRCm39) |
missense |
probably damaging |
1.00 |
R1277:Akap8l
|
UTSW |
17 |
32,551,457 (GRCm39) |
missense |
probably damaging |
1.00 |
R1279:Akap8l
|
UTSW |
17 |
32,551,457 (GRCm39) |
missense |
probably damaging |
1.00 |
R1703:Akap8l
|
UTSW |
17 |
32,551,457 (GRCm39) |
missense |
probably damaging |
1.00 |
R1705:Akap8l
|
UTSW |
17 |
32,551,457 (GRCm39) |
missense |
probably damaging |
1.00 |
R1706:Akap8l
|
UTSW |
17 |
32,551,457 (GRCm39) |
missense |
probably damaging |
1.00 |
R1727:Akap8l
|
UTSW |
17 |
32,551,457 (GRCm39) |
missense |
probably damaging |
1.00 |
R1763:Akap8l
|
UTSW |
17 |
32,551,457 (GRCm39) |
missense |
probably damaging |
1.00 |
R1774:Akap8l
|
UTSW |
17 |
32,551,457 (GRCm39) |
missense |
probably damaging |
1.00 |
R1796:Akap8l
|
UTSW |
17 |
32,551,457 (GRCm39) |
missense |
probably damaging |
1.00 |
R1954:Akap8l
|
UTSW |
17 |
32,555,710 (GRCm39) |
missense |
possibly damaging |
0.74 |
R2072:Akap8l
|
UTSW |
17 |
32,551,457 (GRCm39) |
missense |
probably damaging |
1.00 |
R2073:Akap8l
|
UTSW |
17 |
32,551,457 (GRCm39) |
missense |
probably damaging |
1.00 |
R2074:Akap8l
|
UTSW |
17 |
32,551,457 (GRCm39) |
missense |
probably damaging |
1.00 |
R2107:Akap8l
|
UTSW |
17 |
32,551,457 (GRCm39) |
missense |
probably damaging |
1.00 |
R2108:Akap8l
|
UTSW |
17 |
32,551,457 (GRCm39) |
missense |
probably damaging |
1.00 |
R2214:Akap8l
|
UTSW |
17 |
32,557,799 (GRCm39) |
critical splice acceptor site |
probably null |
|
R2215:Akap8l
|
UTSW |
17 |
32,540,569 (GRCm39) |
missense |
possibly damaging |
0.72 |
R2219:Akap8l
|
UTSW |
17 |
32,553,605 (GRCm39) |
missense |
probably benign |
0.23 |
R2234:Akap8l
|
UTSW |
17 |
32,557,777 (GRCm39) |
missense |
probably damaging |
1.00 |
R2871:Akap8l
|
UTSW |
17 |
32,557,416 (GRCm39) |
missense |
possibly damaging |
0.84 |
R2871:Akap8l
|
UTSW |
17 |
32,557,416 (GRCm39) |
missense |
possibly damaging |
0.84 |
R4273:Akap8l
|
UTSW |
17 |
32,540,905 (GRCm39) |
nonsense |
probably null |
|
R4379:Akap8l
|
UTSW |
17 |
32,540,488 (GRCm39) |
unclassified |
probably benign |
|
R5061:Akap8l
|
UTSW |
17 |
32,551,868 (GRCm39) |
missense |
probably damaging |
1.00 |
R5337:Akap8l
|
UTSW |
17 |
32,555,368 (GRCm39) |
missense |
possibly damaging |
0.71 |
R5377:Akap8l
|
UTSW |
17 |
32,540,485 (GRCm39) |
unclassified |
probably benign |
|
R5579:Akap8l
|
UTSW |
17 |
32,540,916 (GRCm39) |
missense |
probably damaging |
1.00 |
R5609:Akap8l
|
UTSW |
17 |
32,557,374 (GRCm39) |
missense |
probably damaging |
1.00 |
R5667:Akap8l
|
UTSW |
17 |
32,557,266 (GRCm39) |
missense |
probably damaging |
1.00 |
R5671:Akap8l
|
UTSW |
17 |
32,557,266 (GRCm39) |
missense |
probably damaging |
1.00 |
R5747:Akap8l
|
UTSW |
17 |
32,564,352 (GRCm39) |
missense |
probably damaging |
0.97 |
R6186:Akap8l
|
UTSW |
17 |
32,552,018 (GRCm39) |
missense |
probably benign |
0.02 |
R6400:Akap8l
|
UTSW |
17 |
32,555,294 (GRCm39) |
missense |
probably damaging |
0.99 |
R6482:Akap8l
|
UTSW |
17 |
32,564,370 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6712:Akap8l
|
UTSW |
17 |
32,551,862 (GRCm39) |
missense |
probably damaging |
1.00 |
R7165:Akap8l
|
UTSW |
17 |
32,557,386 (GRCm39) |
missense |
probably damaging |
0.99 |
R7485:Akap8l
|
UTSW |
17 |
32,554,545 (GRCm39) |
missense |
probably benign |
0.03 |
R7729:Akap8l
|
UTSW |
17 |
32,552,068 (GRCm39) |
missense |
probably damaging |
1.00 |
R9437:Akap8l
|
UTSW |
17 |
32,553,608 (GRCm39) |
missense |
probably benign |
0.24 |
R9651:Akap8l
|
UTSW |
17 |
32,557,783 (GRCm39) |
missense |
probably damaging |
1.00 |
R9652:Akap8l
|
UTSW |
17 |
32,557,783 (GRCm39) |
missense |
probably damaging |
1.00 |
V5088:Akap8l
|
UTSW |
17 |
32,555,713 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Posted On |
2013-12-09 |